Huntington`s Disease-Like 2 in Brazil-Report of 4 Patients

dc.creatorRODRIGUES, Guilherme G. Riccioppo
dc.creatorWALKER, Ruth H.
dc.creatorBRICE, Alexis
dc.creatorCAZENEUVE, Cecile
dc.creatorRUSSAOUEN, Odile
dc.creatorTEIVE, Helio A. G.
dc.creatorMUNHOZ, Renato Puppi
dc.creatorBECKER, Nilson
dc.creatorRASKIN, Salino
dc.creatorWERNECK, Lineu Cesar
dc.creatorMARQUES, Wilson Junior
dc.creatorTUMAS, Vitor
dc.date.accessioned2012-10-19T23:02:32Z
dc.date.accessioned2018-07-04T15:18:37Z
dc.date.available2012-10-19T23:02:32Z
dc.date.available2018-07-04T15:18:37Z
dc.date.created2012-10-19T23:02:32Z
dc.date.issued2008
dc.identifierMOVEMENT DISORDERS, v.23, n.15, p.2244-2247, 2008
dc.identifier0885-3185
dc.identifierhttp://producao.usp.br/handle/BDPI/24665
dc.identifier10.1002/mds.22223
dc.identifierhttp://dx.doi.org/10.1002/mds.22223
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1621393
dc.description.abstractHuntington`s disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington`s disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. (C) 2008 Movement Disorder Society
dc.languageeng
dc.publisherWILEY-BLACKWELL
dc.relationMovement Disorders
dc.rightsCopyright WILEY-BLACKWELL
dc.rightsrestrictedAccess
dc.subjectHuntington`s disease
dc.subjectjunctophilin 3
dc.subjectHuntington`s disease like
dc.titleHuntington`s Disease-Like 2 in Brazil-Report of 4 Patients
dc.typeArtículos de revistas


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